Relevant Research

Groundbreaking new research, linking obesity and metabolic dysfunction to a problem in the energy generators in cells, has been published by researchers from the Harry Perkins Institute of Medical Research and The University of Western Australia. The study, published in Science Advances, found that reduced function of a gene that impacts the breakdown of fats resulted in adult-onset obesity and fatty liver.

Reduced exercise capacity in people with mitochondrial diseases is linked to both a heart that works inefficiently and muscles that inadequately extract oxygen, according to a study that pinned down the physiological contributions that limit a patient’s ability to perform physical activity. The study, “Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients,” figured that it was most likely a poor heart performance that limited performance across various types of patients. The studyshowed that the reality was more complex.

Scientists have made a breakthrough in understanding how mitochondria — the “powerhouses” of human cells — are made.

A study led by Dr Vicki Gold, of the University of Exeter, has shown that some ribosomes — the tiny factories of cells which produce proteins — are attached to mitochondria. This can explain how proteins are pushed into mitochondria whilst they are being made.

Looking beyond the nuclear genome, researchers have found further evidence that the nearby mitochondrial genome, often overlooked, could be an underlying cause of autism spectrum disorder (ASD). The study reported an association between ancient mitochondrial DNA (mtDNA) variants and ASD and was published August 23 in JAMA Psychiatry.

Advanced three-dimensional imaging has revealed the power grid of the heart is divided into sub-sections organized in parallel rows. When part of the grid is damaged, the problem is confined to a sub-section. A recent study shows that heart mitochondria have both proactive and reactive mechanisms to protect the power grid.

Researchers at Australia’s University of Sydney have developed a blood test capable of identifying mutations in mitochondrial genes. This new test allows a faster diagnosis of rare and often undiagnosed mitochondrial diseases and, when available, will allow affected patients to get prompt treatment.

Epilepsy therapies, like all drugs, have side effects, and can be toxic. Some studies have suggested they can harm people with mitochondrial disorders by damaging mitochondria or altering their function.

Researchers in Norway suggest that an answer to what causes Parkinson’s disease may lie in the mitochondria – the tiny powerhouses inside cells – of dopamine-producing cells. They found that dopamine cells in diseased brains are less able to protect against aging-related damage in their mitochondrial DNA than cells in healthy brains.

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Canada Health Infoway is seeking to understand what challenges you currently face with accessing specialty care, focusing specifically on referrals and any consults that occur between health providers prior to a referral. They want to talk to you if you:

1 Have required at least 3 referrals to specialists or treatments from a primary care provider in the past year, or have been referred from a hospital to a rehab or long term care facility, OR

2 Have experienced challenges in getting the access to the appropriate service because of a referral in the last 2 years.If you are willing to participate, please complete the short survey at deloitte-infoway.typeform.com/to/BWEeOy

The survey contains eight questions, and will take 5 minutes to complete. The research team at Deloitte will review all survey responses and conduct additional screening to select participants that offer a diverse mix of perspectives based on known differences in referral experiences.

Please consider participating. This research helps inform decisions about how care can be improved. ...

DNA sequences between mitochondria within a single cell are vastly different, found researchers in the Perelman School of Medicine at the University of Pennsylvania. This knowledge will help to better illuminate the underlying mechanisms of many disorders that start with accumulated mutations in ind...

Here is your chance to have a say about a national toolkit for supporting parents of complex children and youth. Please register for "Join the Conversation- Building a National Toolkit to Support Parents of Medically Complex Children and Youth" on Dec 6, 2017 11:00 AM EST at: attendee.gotowebinar.com/register/5663013034784801538...

Meet Anakha. At 13 months, Anakha was diagnosed with Multiple Mitochondrial Dysfunction Syndrome, Type 3. At the time of her diagnosis, only 3 other children were known with this condition, and sadly all had passed away before they were 18 months old. Anakha’s story started when, at the age of nine months, she suffered a severe metabolic crisis that caused extensive brain damage. Anakha abruptly lost her ability to move, to see and to speak. No one expected her to survive. But, at 3 years old, this bright-eyed and determined child is beating the odds.

There are thousands of Canadians, like Anakha and her family, that benefit when YOU take action in the fight to improve diagnosis and treatments and ultimately to find a cure for mitochondrial diseases.

While each family’s experience with mitochondrial disease is unique, no one should have to make this journey alone and without hope. We first met Anakha and her parents, Savitha and Ajay, at MITO2017, MitoCanada’s national conference, where delegates learned of exciting Canadian research discoveries that are leading to a better understanding of mitochondrial disease and to future treatments. Today, Savitha and Ajay are active mito disease champions, joining MitoCanada and a growing network of advocates to ensure that the voices of the mitochondrial disease community are heard.

On the GivingTuesday, please consider making a tax-deductible gift to empower MitoCanada to continue to raise awareness, to educate and to fund research on behalf of Canadians with mitochondrial disease. Together, with patients and families like Anakha’s, whose stories compel us to make even greater progress in 2018, YOU can make a difference. Click here to donate now www.canadahelps.org/en/dn/32751...

MitoCanada Foundation is a federally incorporated not for profit organization. Charitable Registration Number: 81258 6667 RR0001
Please note: This site does not provide medical advice. The contents of this site are for information purposes only and are not in any way intended to replace or substitute for the advice of your healthcare professional. Your own healthcare professional is the best source of information regarding your health.